80 related articles for article (PubMed ID: 22844099)
1. A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D; Rogers AE; Kim AJ; Kim S; Pappas SS; Dauer WT
Hum Mol Genet; 2022 Mar; 31(7):1096-1104. PubMed ID: 34686877
[TBL] [Abstract][Full Text] [Related]
2. Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
van der Heijden ME; Kizek DJ; Perez R; Ruff EK; Ehrlich ME; Sillitoe RV
J Physiol; 2021 Apr; 599(7):2037-2054. PubMed ID: 33369735
[TBL] [Abstract][Full Text] [Related]
3. Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant.
Courtin E; Poblete NH; Clot F; Guehl D; Burbaud P
Parkinsonism Relat Disord; 2024 Jun; 123():105900. PubMed ID: 37945392
[No Abstract] [Full Text] [Related]
4.
Agarwal A; Garg D; Rajan R; Garg A; Srivastava AK
Mov Disord Clin Pract; 2023 Dec; 10(12):1815-1817. PubMed ID: 38094642
[No Abstract] [Full Text] [Related]
5. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A; Yadav R; Shah S; Hendriks WT; Erdin S; Gao D; O'Keefe K; Currall B; Gusella JF; Sharma N; Ozelius LJ; Ehrlich ME; Talkowski ME; Bragg DC
Am J Hum Genet; 2021 Nov; 108(11):2145-2158. PubMed ID: 34672987
[TBL] [Abstract][Full Text] [Related]
6. Isolated dystonia: clinical and genetic updates.
Domingo A; Yadav R; Ozelius LJ
J Neural Transm (Vienna); 2021 Apr; 128(4):405-416. PubMed ID: 33247415
[TBL] [Abstract][Full Text] [Related]
7. Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Cheng F; Walter M; Wassouf Z; Hentrich T; Casadei N; Schulze-Hentrich J; Barbuti P; Krueger R; Riess O; Grundmann-Hauser K; Ott T
J Mol Neurosci; 2020 Jul; 70(7):999-1008. PubMed ID: 32112337
[TBL] [Abstract][Full Text] [Related]
8. THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Dehaene H; Praz V; Lhôte P; Lopes M; Herr W
PLoS One; 2020; 15(1):e0224646. PubMed ID: 31905202
[TBL] [Abstract][Full Text] [Related]
9. Structural insights into chaperone addiction of toxin-antitoxin systems.
Guillet V; Bordes P; Bon C; Marcoux J; Gervais V; Sala AJ; Dos Reis S; Slama N; Mares-Mejía I; Cirinesi AM; Maveyraud L; Genevaux P; Mourey L
Nat Commun; 2019 Feb; 10(1):782. PubMed ID: 30770830
[TBL] [Abstract][Full Text] [Related]
10. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Zakirova Z; Fanutza T; Bonet J; Readhead B; Zhang W; Yi Z; Beauvais G; Zwaka TP; Ozelius LJ; Blitzer RD; Gonzalez-Alegre P; Ehrlich ME
PLoS Genet; 2018 Jan; 14(1):e1007169. PubMed ID: 29364887
[TBL] [Abstract][Full Text] [Related]
11. THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.
Aguilo F; Zakirova Z; Nolan K; Wagner R; Sharma R; Hogan M; Wei C; Sun Y; Walsh MJ; Kelley K; Zhang W; Ozelius LJ; Gonzalez-Alegre P; Zwaka TP; Ehrlich ME
Stem Cell Reports; 2017 Jul; 9(1):92-107. PubMed ID: 28579396
[TBL] [Abstract][Full Text] [Related]
12. Ligand induced stabilization of the melting temperature of the HSV-1 single-strand DNA binding protein using the thermal shift assay.
Rupesh KR; Smith A; Boehmer PE
Biochem Biophys Res Commun; 2014 Nov; 454(4):604-8. PubMed ID: 25449284
[TBL] [Abstract][Full Text] [Related]
13. Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.
Ortiz-Virumbrales M; Ruiz M; Hone E; Dolios G; Wang R; Morant A; Kottwitz J; Ozelius LJ; Gandy S; Ehrlich ME
Acta Neuropathol Commun; 2014 Sep; 2():139. PubMed ID: 25231164
[TBL] [Abstract][Full Text] [Related]
14. Inherited isolated dystonia: clinical genetics and gene function.
Dauer W
Neurotherapeutics; 2014 Oct; 11(4):807-16. PubMed ID: 25155315
[TBL] [Abstract][Full Text] [Related]
15. Structural basis for -10 promoter element melting by environmentally induced sigma factors.
Campagne S; Marsh ME; Capitani G; Vorholt JA; Allain FH
Nat Struct Mol Biol; 2014 Mar; 21(3):269-76. PubMed ID: 24531660
[TBL] [Abstract][Full Text] [Related]
16. NMR studies of a new family of DNA binding proteins: the THAP proteins.
Gervais V; Campagne S; Durand J; Muller I; Milon A
J Biomol NMR; 2013 May; 56(1):3-15. PubMed ID: 23306615
[TBL] [Abstract][Full Text] [Related]
17. Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
Campagne S; Muller I; Milon A; Gervais V
Nucleic Acids Res; 2012 Oct; 40(19):9927-40. PubMed ID: 22844099
[TBL] [Abstract][Full Text] [Related]
18. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Sengel C; Gavarini S; Sharma N; Ozelius LJ; Bragg DC
J Neurochem; 2011 Sep; 118(6):1087-100. PubMed ID: 21752024
[TBL] [Abstract][Full Text] [Related]
19. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A; Hollstein R; Hebert E; Vulinovic F; Eckhold J; Osmanovic A; Depping R; Kaiser FJ; Lohmann K
J Mol Neurosci; 2017 May; 62(1):11-16. PubMed ID: 28299530
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]